MCID: ATY025
MIFTS: 20

Atypical Glycine Encephalopathy

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Atypical Glycine Encephalopathy

MalaCards integrated aliases for Atypical Glycine Encephalopathy:

Name: Atypical Glycine Encephalopathy 58
Atypical Non-Ketotic Hyperglycinemia 58
Atypical Nka 58

Characteristics:

Orphanet epidemiological data:

58
atypical glycine encephalopathy
Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E72.5
Orphanet 58 ORPHA289863

Summaries for Atypical Glycine Encephalopathy

MalaCards based summary : Atypical Glycine Encephalopathy, also known as atypical non-ketotic hyperglycinemia, is related to glycine encephalopathy and west syndrome. An important gene associated with Atypical Glycine Encephalopathy is SLC6A9 (Solute Carrier Family 6 Member 9), and among its related pathways/superpathways are Carbon metabolism and Glycine, serine and threonine metabolism.

Related Diseases for Atypical Glycine Encephalopathy

Diseases related to Atypical Glycine Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glycine encephalopathy 28.0 SLC6A9 GLDC GCSH AMT
2 west syndrome 9.9
3 encephalopathy 9.9
4 histidine metabolism disease 9.7 GLDC GCSH
5 histidinemia 9.6 GLDC GCSH
6 cutis laxa, autosomal dominant 3 9.6 GCSH AMT
7 propionic acidemia 9.5 GLDC GCSH
8 cutis laxa, autosomal dominant 1 9.2 GLDC GCSH AMT
9 autosomal recessive disease 9.1 GLDC GCSH AMT

Graphical network of the top 20 diseases related to Atypical Glycine Encephalopathy:



Diseases related to Atypical Glycine Encephalopathy

Symptoms & Phenotypes for Atypical Glycine Encephalopathy

Drugs & Therapeutics for Atypical Glycine Encephalopathy

Search Clinical Trials , NIH Clinical Center for Atypical Glycine Encephalopathy

Genetic Tests for Atypical Glycine Encephalopathy

Anatomical Context for Atypical Glycine Encephalopathy

Publications for Atypical Glycine Encephalopathy

Articles related to Atypical Glycine Encephalopathy:

# Title Authors PMID Year
1
Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis. 61
19299230 2009

Variations for Atypical Glycine Encephalopathy

ClinVar genetic disease variations for Atypical Glycine Encephalopathy:

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC6A9 NM_001024845.3(SLC6A9):c.832C>T (p.Gln278Ter)SNV Pathogenic 568191 rs201437896 1:44468210-44468210 1:44002538-44002538
2 SLC6A9 NM_001024845.3(SLC6A9):c.1000A>G (p.Ser334Gly)SNV Pathogenic 374986 rs1057519313 1:44467262-44467262 1:44001590-44001590
3 SLC6A9 NM_001024845.3(SLC6A9):c.1498C>T (p.Gln500Ter)SNV Pathogenic 374987 rs1057519314 1:44466477-44466477 1:44000805-44000805
4 SLC6A9 NM_001024845.3(SLC6A9):c.709_713del (p.Lys237fs)deletion Pathogenic 374988 rs1057519315 1:44468535-44468539 1:44002863-44002867
5 SLC6A9 NM_001024845.3(SLC6A9):c.664G>A (p.Gly222Ser)SNV Uncertain significance 651556 1:44468584-44468584 1:44002912-44002912
6 SLC6A9 NM_001024845.3(SLC6A9):c.535T>C (p.Ser179Pro)SNV Uncertain significance 660073 1:44474080-44474080 1:44008408-44008408
7 SLC6A9 NM_001024845.3(SLC6A9):c.461A>G (p.His154Arg)SNV Uncertain significance 848719 1:44474154-44474154 1:44008482-44008482
8 SLC6A9 NM_001024845.3(SLC6A9):c.64G>A (p.Asp22Asn)SNV Uncertain significance 853225 1:44476521-44476521 1:44010849-44010849
9 SLC6A9 NM_001024845.3(SLC6A9):c.1810G>A (p.Gly604Ser)SNV Likely benign 719042 1:44463309-44463309 1:43997637-43997637
10 SLC6A9 NM_001024845.3(SLC6A9):c.120C>T (p.Ser40=)SNV Likely benign 712931 1:44476465-44476465 1:44010793-44010793
11 SLC6A9 NM_001024845.3(SLC6A9):c.1653C>T (p.Ile551=)SNV Likely benign 735203 1:44463581-44463581 1:43997909-43997909
12 SLC6A9 NM_001024845.3(SLC6A9):c.468C>T (p.Cys156=)SNV Likely benign 733549 1:44474147-44474147 1:44008475-44008475
13 SLC6A9 NM_001024845.3(SLC6A9):c.528C>T (p.Ser176=)SNV Likely benign 784655 1:44474087-44474087 1:44008415-44008415
14 SLC6A9 NM_001024845.3(SLC6A9):c.517G>A (p.Ala173Thr)SNV Likely benign 788180 1:44474098-44474098 1:44008426-44008426
15 SLC6A9 NM_001024845.3(SLC6A9):c.472G>A (p.Gly158Ser)SNV Benign 791710 1:44474143-44474143 1:44008471-44008471
16 SLC6A9 NM_001024845.3(SLC6A9):c.31-697C>GSNV Benign 786870 1:44477251-44477251 1:44011579-44011579
17 SLC6A9 NM_001024845.3(SLC6A9):c.1146G>A (p.Pro382=)SNV Benign 774154 1:44467116-44467116 1:44001444-44001444
18 SLC6A9 NM_001024845.3(SLC6A9):c.705G>C (p.Gly235=)SNV Benign 791709 1:44468543-44468543 1:44002871-44002871
19 SLC6A9 NM_001024845.3(SLC6A9):c.654T>C (p.Leu218=)SNV Benign 784947 1:44468594-44468594 1:44002922-44002922
20 SLC6A9 NM_001024845.3(SLC6A9):c.960C>T (p.Tyr320=)SNV Benign 476370 rs61733181 1:44467987-44467987 1:44002315-44002315
21 SLC6A9 NM_001024845.3(SLC6A9):c.1537-6G>ASNV Benign 476371 rs113184612 1:44463703-44463703 1:43998031-43998031

Expression for Atypical Glycine Encephalopathy

Search GEO for disease gene expression data for Atypical Glycine Encephalopathy.

Pathways for Atypical Glycine Encephalopathy

GO Terms for Atypical Glycine Encephalopathy

Cellular components related to Atypical Glycine Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.33 GLDC GCSH AMT
2 mitochondrial matrix GO:0005759 9.13 GLDC GCSH AMT
3 glycine cleavage complex GO:0005960 8.62 GLDC GCSH

Biological processes related to Atypical Glycine Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glycine decarboxylation via glycine cleavage system GO:0019464 9.13 GLDC GCSH AMT
2 glycine catabolic process GO:0006546 8.8 GLDC GCSH AMT

Molecular functions related to Atypical Glycine Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aminomethyltransferase activity GO:0004047 8.62 GCSH AMT

Sources for Atypical Glycine Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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